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  • Test code: 02352
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel

Test description

This test analyzes genes associated with hereditary hemorrhagic telangiectasia (HHT) and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. Given the clinical overlap between vascular malformations, comprehensive testing enables a more efficient evaluation of multiple disorders based on a single indication.

Individuals with clinical symptoms of HHT or CM-AVM syndrome may benefit from diagnostic genetic testing to establish or confirm a diagnosis, clarify risks, or inform management. Early diagnosis and treatment may help avoid secondary complications and adverse outcomes. Asymptomatic members of a family with a known HHT pathogenic variant may also benefit by avoiding specific medications (e.g., anticoagulation and anti-inflammatory agents) that can trigger symptoms.

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Primary panel (6 genes)

ACVRL1 ENG EPHB4 GDF2 RASA1 SMAD4

  • Hereditary hemorrhagic telangiectasia (HHT)
  • Capillary malformation-arteriovenous malformation (CM-AVM) syndrome
  • Parkes-Weber syndrome

To view the complete clinical description of this panel, click here.

HHT and CM-AVM syndrome are inherited in an autosomal dominant manner. Most cases of HHT are inherited from an affected parent, although de novo germline or somatic variants have been reported. Most cases of CM-AVM syndrome are inherited from an affected parent, but in 30% of cases, spontaneous de novo mutations have been reported in affected individuals with no family history of the disorder.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACVRL1 NM_000020.2
ENG* NM_000118.3
EPHB4 NM_004444.4
GDF2 NM_016204.2
RASA1 NM_002890.2
SMAD4 NM_005359.5

ENG: Sequencing analysis for exons 7 includes only cds +/- 10 bp.